International Journal of Legal Medicine

, Volume 119, Issue 2, pp 70–76

Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil)

  • Andréa Carla de Souza Góes
  • Elizeu Fagundes de Carvalho
  • Iva Gomes
  • Dayse Aparecida da Silva
  • Érica Helena Fonseca Gil
  • António Amorim
  • Leonor Gusmão
Original Article

DOI: 10.1007/s00414-004-0504-x

Cite this article as:
de Souza Góes, A.C., de Carvalho, E.F., Gomes, I. et al. Int J Legal Med (2005) 119: 70. doi:10.1007/s00414-004-0504-x

Abstract

The 17 Y chromosome STR loci DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA C4, GATA H4 and GATA A10 were analyzed in a male sample of 126 unrelated individuals from Rio de Janeiro. No shared haplotypes were observed, demonstrating the usefulness and informative power of these Y-STRs in male lineage identification in Rio de Janeiro. Pairwise haplotype analysis showed no significant differences in the comparison of Rio de Janeiro with Iberian samples from different regions of Portugal and Spain, as well as with other Caucasian samples from South America, namely Costa Rica, Buenos Aires (Argentina) and São Paulo (Brazil). The same set of Y-STRs was also typed in 119 father/son pairs and among 2,023 allele transfers, 8 mutations were observed with an overall mutation rate of 0.003955±0.001396 per locus/meiosis across the 17 loci. Except in one case, all mutations were single step. For DYS438 a four-step mutation was found which has never been reported before, where allele 10 mutated to allele 6.

Keywords

Y-chromosome haplotypesSTRsBrazilMutation

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Andréa Carla de Souza Góes
    • 1
  • Elizeu Fagundes de Carvalho
    • 1
  • Iva Gomes
    • 2
    • 3
  • Dayse Aparecida da Silva
    • 1
  • Érica Helena Fonseca Gil
    • 1
  • António Amorim
    • 2
    • 4
  • Leonor Gusmão
    • 2
  1. 1.Laboratorio de Diagnósticos por DNA Instituto de BiologiaUniversidade do Estado do Rio de JaneiroBrazil
  2. 2.IPATIMUPInstituto de Patologia e Imunologia Molecular da Universidade do Porto PortoPortugal
  3. 3.Departamento de BiologiaUniversidade de AveiroPortugal
  4. 4.Faculdade de CiênciasUniversidade do PortoPortugal